Linked Data
ClinVar Variation Id:
1394695
ClinVar RCV Id:
RCV001898601
dbSNP Id:
rs77672173
ExAC:
10:50818969 C / G
gnomAD v2:
10-50818969-C-G
gnomAD v3:
10-49610923-C-G
gnomAD v4:
10-49610923-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49610923C>G , CM000672.2:g.49610923C>G | GRCh38 |
| NC_000010.10:g.50818969C>G , CM000672.1:g.50818969C>G | GRCh37 |
| NC_000010.9:g.50488975C>G | NCBI36 |
| NG_011797.1:g.6829C>G | |
| NG_053144.1:g.5623C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374115.5:c.183C>G (SLC18A3) MANE Select | ENSP00000363229.3:p.Ile61Met | |
| ENST00000339797.5:c.-69+1724C>G (CHAT) | ENSP00000343486.1:n.-69+1724C>G | |
| ENST00000374115.4:c.183C>G (SLC18A3) | ENSP00000363229.3:p.Ile61Met | |
| NM_003055.2:c.183C>G (SLC18A3) | NP_003046.2:p.Ile61Met | |
| NM_020984.3:c.-69+1724C>G (CHAT) | NP_066264.3:n.-69+1724C>G | |
| NM_003055.3:c.183C>G (SLC18A3) MANE Select | NP_003046.2:p.Ile61Met | |
| NM_020984.4:c.-69+1724C>G (CHAT) | NP_066264.4:n.-69+1724C>G |